Sonographic Prenatal Diagnosis of Ectrodactyly: A Case Study

Ectrodactyly, also known as split hand/split foot malformation, is a rare congenital disease defined as the absence or underdevelopment of the central digits with a median cleft of the hand or foot. It can be an isolated sonographic finding or associated with a syndrome. This case study describes isolated left-handed ectrodactyly diagnosed sonographically at 20 weeks gestation, during a routine anatomy sonogram. The patient had no family history of this condition, which demonstrates the importance of sonography for early diagnosis, counseling, and genetic testing options.

Coexisting sonographic features of “tumor neovascularization-like pattern” and “echogenic areas” in thyroid nodules: Diagnostic performance in prediction of papillary carcinoma

Purpose To determine the diagnostic performance of the sonographic finding of tumor neovascularization-like patterns and echogenic areas in differentiating papillary carcinomas from benign nodules.Materials and methods We prospectively analyzed ultrasound-guided fine-needle aspiration (FNA) of thyroid nodules for the two features. In total, 299 nodules (evenly distributed benign vs papillary carcinoma) were evaluated by two blinded readers for intense small penetrating vessels and homogenous mild hyper-echoic areas within the nodules and correlated with FNA-confirmed pathologic diagnosis. A set of nodules with and without the features was selected for further pathologic review and comparison to establish a pathologic basis for the finding.Results The specificity of the “tumor neovascularization-like pattern” and “echogenic areas” in papillary thyroid cancers (PTCs) was 90.6% and 91.3%, respectively. There was a significant correlation, with P < 0.0001, between the “tumor neovascularization-like pattern” and “echogenic areas” in PTCs on both sonographic and pathologic levels. Additionally, the newly identified features as a single variable were more predictive of malignancy than the well-studied features. Inclusion of these new features markedly improved the predictive ability of PTC (AUROC = 0.873 versus 0.801, P < 0.0001).Conclusion Despite their relatively low sensitivity, the “tumor neovascularization-like pattern” and “echogenic areas” are highly specific for PTC and can be a useful sonographic finding in decisions regarding FNA.